Product Details
- SNP ID
-
rs200040002
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:47716925 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTTGTGGCCGTCATGCACGGGGAC[A/G]CTGAGGGCACCGTGCCCGGCAACGC
- Phenotype
-
MIM: 605890
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EHD2
PubMed Links
Gene Details
- Gene
- EHD2
- Gene Name
- EH domain containing 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_014601.3 |
563 |
Missense Mutation |
ACT,GCT |
T105A |
NP_055416.2 |
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